Incidental Mutation 'IGL02650:Mapre3'
| ID |
302096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mapre3
|
| Ensembl Gene |
ENSMUSG00000029166 |
| Gene Name |
microtubule-associated protein, RP/EB family, member 3 |
| Synonyms |
EB3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
IGL02650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
30971985-31023450 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31022053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 187
(I187N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031058]
[ENSMUST00000114716]
[ENSMUST00000200692]
[ENSMUST00000201203]
[ENSMUST00000202501]
|
| AlphaFold |
Q6PER3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031058
AA Change: I202N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: I202N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
4.1e-10 |
PFAM |
|
low complexity region
|
201 |
214 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
219 |
257 |
1.4e-17 |
PFAM |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114716
|
| SMART Domains |
Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
|
Pfam:DUF2359
|
172 |
638 |
8e-247 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200692
AA Change: I187N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: I187N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
2.8e-12 |
PFAM |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
204 |
242 |
1.6e-21 |
PFAM |
|
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201203
|
| SMART Domains |
Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
|
Pfam:DUF2359
|
217 |
683 |
6.9e-246 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202501
|
| SMART Domains |
Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
6.9e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells fail to exhibit F2r agonist-induced vascular hyper-permeability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,881 (GRCm39) |
T586A |
probably benign |
Het |
| Acads |
G |
T |
5: 115,250,874 (GRCm39) |
T141N |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,808,745 (GRCm39) |
R721H |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,672,665 (GRCm39) |
V236A |
possibly damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,249,869 (GRCm39) |
Q207* |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atp6v0a2 |
G |
T |
5: 124,789,426 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,384,670 (GRCm39) |
K2537E |
possibly damaging |
Het |
| Cox7a1 |
A |
T |
7: 29,884,562 (GRCm39) |
E32V |
possibly damaging |
Het |
| Dis3 |
A |
T |
14: 99,336,221 (GRCm39) |
M95K |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,289,193 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dynlt5 |
C |
A |
4: 102,845,803 (GRCm39) |
Q12K |
probably benign |
Het |
| Ghsr |
A |
T |
3: 27,429,004 (GRCm39) |
Q343L |
probably benign |
Het |
| Gm3252 |
T |
A |
14: 4,746,353 (GRCm38) |
V215E |
probably damaging |
Het |
| Gm9979 |
A |
G |
13: 40,859,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 48,977,331 (GRCm39) |
M867K |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,919 (GRCm39) |
T777A |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,890,886 (GRCm39) |
Q1310L |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,451,492 (GRCm39) |
F205L |
probably damaging |
Het |
| Igkv4-86 |
T |
C |
6: 68,887,617 (GRCm39) |
I40V |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,957,505 (GRCm39) |
D69G |
possibly damaging |
Het |
| Lrch1 |
T |
C |
14: 75,051,138 (GRCm39) |
D333G |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,337 (GRCm39) |
|
probably null |
Het |
| Nanos2 |
C |
T |
7: 18,721,794 (GRCm39) |
P89S |
probably damaging |
Het |
| Or4c109 |
T |
A |
2: 88,818,424 (GRCm39) |
M41L |
probably benign |
Het |
| Parp16 |
G |
A |
9: 65,141,098 (GRCm39) |
V223I |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,946,947 (GRCm39) |
M231T |
probably benign |
Het |
| Suco |
C |
A |
1: 161,676,322 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
G |
T |
16: 90,773,584 (GRCm39) |
T459N |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,975,040 (GRCm39) |
Q732* |
probably null |
Het |
| Tas2r102 |
A |
G |
6: 132,739,173 (GRCm39) |
N27S |
probably null |
Het |
| Tll1 |
C |
T |
8: 64,500,031 (GRCm39) |
|
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,916 (GRCm39) |
I258V |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,535 (GRCm39) |
M783K |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,301,223 (GRCm39) |
V742I |
probably benign |
Het |
|
| Other mutations in Mapre3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Mapre3
|
APN |
5 |
31,022,240 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01391:Mapre3
|
APN |
5 |
31,022,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
capen
|
UTSW |
5 |
31,022,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1272:Mapre3
|
UTSW |
5 |
31,019,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1298:Mapre3
|
UTSW |
5 |
31,022,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Mapre3
|
UTSW |
5 |
31,019,151 (GRCm39) |
splice site |
probably benign |
|
|
R1524:Mapre3
|
UTSW |
5 |
31,019,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2006:Mapre3
|
UTSW |
5 |
31,019,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Mapre3
|
UTSW |
5 |
31,020,546 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5864:Mapre3
|
UTSW |
5 |
31,020,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6630:Mapre3
|
UTSW |
5 |
31,019,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7348:Mapre3
|
UTSW |
5 |
31,019,173 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8143:Mapre3
|
UTSW |
5 |
31,020,719 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9182:Mapre3
|
UTSW |
5 |
31,022,016 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2015-04-16 |
Incidental Mutation